References
- Higgins JJ, Morton DH, Loveless JM. Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32. Neurology 1999;52:146–50.
- Berciano J, Polo JM. Autosomal recessive posterior column ataxia and retinitis pigmentosa. (Letter) Neurology 1998;5:1772–3.
- Higgins JJ, Morton DH, Patronas N, Nee LE. An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa. Neurology 1997;49:1717–20.
- Rajadhyaksha AM, Elemento O, Puffenberger EG, Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. Am J Hum Genet 2010;87:643–54.
- Ishiura H, Fukuda Y, Mitsui J, Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. Neurogenetics 2011;12:117–21.
- Shaibani A, Shchelochkov OA, Zhang S, Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. Arch Neurol 2009;66:1028–32.
- Khan AA, Quigley JG. Heme and FLVCR-related transporter families SLC48 and SLC49. Mol Aspects Med 2013;34:669–82.
- Yanatori I, Yasui Y, Miura K, Kishi F. Mutations of FLVCR1 in posterior column ataxia and retinitis pigmentosa result in the loss of heme export activity. Blood Cells Mol Dis 2012;49:60–6.
- Nagy E, Maquat LE. A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance. Trends Biochem Sci 1998;23:198–9.
- Quigley JG, Yang Z, Worthington MT, Identification of a human heme exporter that is essential for erythropoiesis. Cell 2004;118:757–66.
- Keel SB, Doty RT, Yang Z, A heme export protein is required for red blood cell differentiation and iron homeostasis. Science 2008;319:825–28.
- Tailor CS, Willett BJ, Kabat D. A putative cell surface receptor for anemia-inducing feline leukemia virus subgroup C is a member of a transporter superfamily. J Virol 1999;73:6500–5.
- Khan AA, Quigley JG. Control of intracellular heme levels: heme transporters and heme oxygenases. Biochim Biophys Acta 2011;1813:668–82.
- Chiabrando D, Marro S, Mercurio S, The mitochondrial heme exporter FLVCR1b mediates erythroid differentiation. J Clin Invest 2012;122:4569–79.
- Fleming MD, Hamza I. Mitochondrial heme: an exit strategy at last. J Clin Invest 2012;122:4328–30.